Fig. 5
From: Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads
PCR results and Sanger sequencing of two tandem-repeat loci in human genome NA12878, with expansions relative to the reference human genome (hg38). Reads were aligned by MUSCLE [33]. The histograms show read counts (y-axis) for predicted copy number changes (x-axis), with nanopore (rel3) in blue and PacBio (SRR3197748) in red. a Expansion of an inexact TATAT repeat in an intron of PCDH15: actually insertion of an AluYb8 SINE. b Expansion of an intergenic GT repeat: actually deletion in the reference human genome. The bands marked by asterisks were sequenced and proved to be non-target amplification